Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy

CN Kay, MD Abramoff, RF Mullins… - Archives of …, 2012 - jamanetwork.com
Objective To describe the anatomical phenotypes of Best vitelliform macular dystrophy
(BVMD) with spectral-domain optical coherence tomography (SD-OCT) in a large series of
patients with confirmed mutations in the BEST1 gene. Methods In our retrospective
observational case series, we assessed 15 patients (30 eyes) with a clinical diagnosis of
vitelliform macular dystrophy who were found to have mutations in the BEST1 gene. Color
fundus photographs and SD-OCT images were evaluated and compared with those of 15 …